Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
THSD7B_chr2_136760545_137682718	137271450	A A	AATATAAT others(12): Show AATATAATATATAATATAAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02886.hp2 HG02647.hp2 HG02886.hp2	a0016 a0017 a0016 a0017	a0016c0027 a0017c0026 a0016c0027 a0017c0026	a0016c0027t0001 a0017c0026t0005 a0016c0027t0001 a0017c0026t0005	a0016c0027t0001g0065 a0017c0026t0005g0085 a0016c0027t0001g0065 a0017c0026t0005g0085	2	81	0.0247	19	c.226 others(38): Show c.2267-1072_2267-1054dupTAATATAATATATAATATA	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	10/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD7B_chr2_136760545_137682718	137590792	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03195.hp1 HG00438.hp2 HG03195.hp1	a0008 a0021 a0008 a0021	a0008c0042 a0021c0041 a0008c0042 a0021c0041	a0008c0042t0006 a0021c0041t0007 a0008c0042t0006 a0021c0041t0007	a0008c0042t0006g0043 a0021c0041t0007g0007 a0008c0042t0006g0043 a0021c0041t0007g0007	2	61	0.0328	19	c.342 others(40): Show c.3423+18239_3423+18257dupTTTTTTTTTTTTTTTTTTT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	17/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
THSD8_chr19_12797069_12809389	12805131	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18986.hp1 NA19004.hp2 NA18950.hp2 NA18986.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0007	3	70	0.0429	19	c.82 others(28): Show c.828_*829insAAAAAAAAAAAAAAAAAAA	THSD8	ENSG00000284491.3	transcript	ENST00000639810.3	protein_coding		743		chr19	TogoVar
TIAM1_chr21_31113418_31349261	31315679	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0087 a0010c0018t0001g0087	1	48	0.0208	19	c.-18 others(40): Show c.-189+23545_-189+23563dupTTTTTTTTTTTTTTTTTTT	TIAM1	ENSG00000156299.15	transcript	ENST00000541036.6	protein_coding	2/27			chr21	TogoVar
TIAM2_chr6_154990315_155262723	155016509	T T	TTAAATGG others(12): Show TTAAATGGTAAATTTAAATG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01175.hp1 HG01433.hp1 others(11): Show HG01167.hp1 HG01175.hp1 HG01433.hp1 HG02055.hp1 HG02145.hp1 HG02451.hp1 HG02572.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp1 HG03209.hp2 HG04228.hp1 NA19043.hp1 NA20905.hp2	a0001 a0012 a0013 others(1): Show a0001 a0012 a0013 a0021	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0018 a0001c0039 a0001c0053 a0012c0019 a0013c0034 a0021c0020	a0001c0001t0005 a0001c0001t0014 a0001c0001t0019 others(9): Show a0001c0001t0005 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0002t0005 a0001c0004t0002 a0001c0018t0007 a0001c0039t0007 a0001c0053t0015 a0012c0019t0001 a0013c0034t0006 a0021c0020t0005	a0001c0001t0005g0191 a0001c0001t0014g0228 a0001c0001t0019g0214 others(11): Show a0001c0001t0005g0191 a0001c0001t0014g0228 a0001c0001t0019g0214 a0001c0001t0021g0229 a0001c0002t0005g0218 a0001c0004t0002g0115 a0001c0018t0007g0220 a0001c0018t0007g0221 a0001c0039t0007g0227 a0001c0053t0015g0072 a0012c0019t0001g0073 a0012c0019t0001g0074 a0013c0034t0006g0063 a0021c0020t0005g0226	14	182	0.0769	19	c.-20 others(40): Show c.-209+21026_-209+21027insAATTTAAATGTAAATGGTA	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155029513	C C	CTATAGTA others(12): Show CTATAGTATATATACTATAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00438.hp2 others(92): Show HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01433.hp1 HG01516.hp2 HG01943.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18968.hp2 NA18969.hp2 NA18982.hp1 NA18988.hp2 NA18999.hp1 NA18999.hp2 NA19007.hp2 NA19043.hp1 NA19056.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0013 a0014 a0017 a0019 a0020 a0022 a0023 a0027 a0028 a0029 a0030 a0031	a0001c0001 a0001c0002 a0001c0004 others(35): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0001c0018 a0001c0039 a0001c0053 a0002c0003 a0002c0014 a0002c0015 a0002c0016 a0002c0023 a0002c0028 a0002c0031 a0003c0006 a0003c0057 a0004c0011 a0005c0012 a0005c0062 a0006c0010 a0008c0013 a0009c0017 a0010c0051 a0011c0054 a0013c0034 a0013c0035 a0014c0055 a0017c0049 a0019c0066 a0020c0064 a0022c0025 a0023c0065 a0027c0027 a0028c0021 a0029c0026 a0030c0037 a0031c0036	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(54): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0023 a0001c0002t0001 a0001c0002t0003 a0001c0002t0013 a0001c0002t0015 a0001c0002t0017 a0001c0004t0002 a0001c0005t0006 a0001c0005t0007 a0001c0005t0016 a0001c0009t0012 a0001c0009t0013 a0001c0018t0007 a0001c0039t0007 a0001c0053t0015 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0009 a0002c0014t0002 a0002c0015t0006 a0002c0016t0010 a0002c0023t0011 a0002c0028t0006 a0002c0031t0020 a0003c0006t0027 a0003c0057t0002 a0004c0011t0004 a0004c0011t0009 a0005c0012t0007 a0005c0062t0003 a0006c0010t0002 a0008c0013t0001 a0008c0013t0009 a0009c0017t0001 a0010c0051t0005 a0011c0054t0005 a0013c0034t0006 a0013c0035t0024 a0014c0055t0001 a0017c0049t0001 a0019c0066t0002 a0020c0064t0034 a0022c0025t0003 a0023c0065t0014 a0027c0027t0001 a0028c0021t0001 a0029c0026t0001 a0030c0037t0012 a0031c0036t0005	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0080 others(92): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0080 a0001c0001t0001g0123 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0159 a0001c0001t0001g0172 a0001c0001t0003g0099 a0001c0001t0003g0109 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0168 a0001c0001t0004g0019 a0001c0001t0013g0219 a0001c0001t0014g0228 a0001c0001t0015g0045 a0001c0001t0019g0214 a0001c0001t0023g0204 a0001c0002t0001g0017 a0001c0002t0001g0032 a0001c0002t0001g0037 a0001c0002t0001g0061 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0001g0166 a0001c0002t0001g0173 a0001c0002t0003g0128 a0001c0002t0003g0177 a0001c0002t0013g0224 a0001c0002t0015g0118 a0001c0002t0017g0195 a0001c0004t0002g0151 a0001c0005t0006g0009 a0001c0005t0006g0212 a0001c0005t0007g0182 a0001c0005t0007g0183 a0001c0005t0016g0197 a0001c0009t0012g0189 a0001c0009t0013g0203 a0001c0018t0007g0220 a0001c0018t0007g0221 a0001c0039t0007g0227 a0001c0053t0015g0072 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0026 a0002c0003t0001g0052 a0002c0003t0001g0092 a0002c0003t0001g0121 a0002c0003t0001g0124 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0003g0142 a0002c0003t0003g0158 a0002c0003t0004g0036 a0002c0003t0004g0088 a0002c0003t0009g0024 a0002c0014t0002g0126 a0002c0014t0002g0127 a0002c0015t0006g0051 a0002c0016t0010g0086 a0002c0023t0011g0025 a0002c0028t0006g0095 a0002c0031t0020g0198 a0003c0006t0027g0193 a0003c0057t0002g0156 a0004c0011t0004g0120 a0004c0011t0004g0169 a0004c0011t0009g0160 a0005c0012t0007g0001 a0005c0062t0003g0175 a0006c0010t0002g0031 a0008c0013t0001g0010 a0008c0013t0001g0022 a0008c0013t0009g0071 a0009c0017t0001g0015 a0009c0017t0001g0027 a0010c0051t0005g0180 a0011c0054t0005g0202 a0013c0034t0006g0063 a0013c0035t0024g0201 a0014c0055t0001g0057 a0017c0049t0001g0035 a0019c0066t0002g0075 a0020c0064t0034g0113 a0022c0025t0003g0046 a0023c0065t0014g0185 a0027c0027t0001g0129 a0028c0021t0001g0028 a0029c0026t0001g0060 a0030c0037t0012g0184 a0031c0036t0005g0188	95	132	0.7197	19	c.-20 others(40): Show c.-209+34025_-209+34026insGTATATATACTATAGTATA	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155029584	C C	CTATATAG others(12): Show CTATATAGTTATATATACTA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	179	0.0056	19	c.-20 others(40): Show c.-209+34100_-209+34101insTATATATACTATATATAGT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIAM2_chr6_154990315_155262723	155114036	A A	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	152	0.0066	19	c.-11 others(40): Show c.-117-13453_-117-13452insATTTTTTTTTTTTTTTTTT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TICAM2_chr5_115573496_115607479	115578195	A A	ATTTTTCT others(12): Show ATTTTTCTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG04199.hp2 HG02615.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0111 a0001c0001t0006g0093 a0001c0001t0005g0111 a0001c0001t0006g0093	2	118	0.0169	19	c.23 others(30): Show c.2353_*2354insAAAAAAAAAAAAAGAAAAA	TICAM2	ENSG00000243414.6	transcript	ENST00000427199.3	protein_coding		300		chr5	TogoVar
TICRR_chr15_89570469_89633023	89577599	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0029 a0029	a0029c0038 a0029c0038	a0029c0038t0013 a0029c0038t0013	a0029c0038t0013g0194 a0029c0038t0013g0194	1	31	0.0323	19	c.654 others(36): Show c.654+1368_654+1386dupTTTTTTTTTTTTTTTTTTT	TICRR	ENSG00000140534.14	transcript	ENST00000268138.12	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
TICRR_chr15_89570469_89633023	89609100	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0206 a0004c0006t0001g0206	1	60	0.0167	19	c.286 others(36): Show c.2869+161_2869+179dupTTTTTTTTTTTTTTTTTTT	TICRR	ENSG00000140534.14	transcript	ENST00000268138.12	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
TICRR_chr15_89570469_89633023	89628271	C C	CCCAAATT others(12): Show CCCAAATTTGTTGATCCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19240.hp1 NA19030.hp1 NA19240.hp1	a0007 a0011 a0007 a0011	a0007c0008 a0011c0015 a0007c0008 a0011c0015	a0007c0008t0006 a0011c0015t0006 a0007c0008t0006 a0011c0015t0006	a0007c0008t0006g0091 a0011c0015t0006g0093 a0007c0008t0006g0091 a0011c0015t0006g0093	2	342	0.0058	19	c.11 others(30): Show c.1185_*1186insCCAAATTTGTTGATCCCAG	TICRR	ENSG00000140534.14	transcript	ENST00000268138.12	protein_coding		249		chr15	TogoVar
TIGAR_chr12_4316213_4365028	4363262	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0260 a0001c0001t0009g0260	1	16	0.0625	19	c.10 others(32): Show c.10571_*10572insGTGTGTGTGTGTGTGTGTG	TIGAR	ENSG00000078237.7	transcript	ENST00000179259.6	protein_coding		3235		chr12	TogoVar
TIMELESS_chr12_56411363_56454426	56420029	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19075.hp2 NA19067.hp2 NA19075.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0143 a0001c0003t0002g0144 a0001c0003t0002g0143 a0001c0003t0002g0144	2	256	0.0078	19	c.322 others(36): Show c.3228+539_3228+540insATATATATTTTTTTTTTTT	TIMELESS	ENSG00000111602.12	transcript	ENST00000553532.6	protein_coding	26/28			chr12	TogoVar
TIMM9_chr14_58403495_58432531	58404119	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	29	0.0345	19	c.49 others(30): Show c.4914_*4915insAAAAAAATATATATATATA	TIMM9	ENSG00000100575.14	transcript	ENST00000395159.7	protein_coding		4375		chr14	TogoVar
TINAG_chr6_54303441_54395142	54360841	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG01358.hp2 others(11): Show HG00280.hp2 HG00642.hp2 HG01358.hp2 HG01515.hp1 HG02083.hp1 HG02622.hp1 HG03471.hp1 HG03492.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 NA18942.hp2 NA19083.hp2 NA19088.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0005c0005t0001 a0001c0001t0001 a0002c0002t0001 a0005c0005t0001	a0001c0001t0001g0073 a0001c0001t0001g0097 a0001c0001t0001g0111 others(11): Show a0001c0001t0001g0073 a0001c0001t0001g0097 a0001c0001t0001g0111 a0001c0001t0001g0151 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0315 a0002c0002t0001g0117 a0002c0002t0001g0145 a0002c0002t0001g0251 a0002c0002t0001g0293 a0002c0002t0001g0298 a0005c0005t0001g0265 a0005c0005t0001g0266	14	71	0.1972	19	c.125 others(38): Show c.1250+6218_1250+6236dupTTTTTTTTTTTTTTTTTTT	TINAG	ENSG00000137251.16	transcript	ENST00000259782.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
TK1_chr17_78169091_78192052	78187960	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	129	0.0078	19	c.-98 others(28): Show c.-985_-967dupTTTTTTTTTTTTTTTTTTT	TK1	ENSG00000167900.12	transcript	ENST00000301634.12	protein_coding		909		chr17	TogoVar
TK2_chr16_66503003_66555122	66505212	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	177	0.0056	19	c.67 others(30): Show c.6755_*6756insATATATATATATATATATA	TK2	ENSG00000166548.17	transcript	ENST00000544898.6	protein_coding		2790		chr16	TogoVar
TK2_chr16_66503003_66555122	66505213	T T	TATATATA others(12): Show TATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0207 a0001c0001t0004g0207	1	228	0.0044	19	c.67 others(30): Show c.6754_*6755insTATATATATATATATATAT	TK2	ENSG00000166548.17	transcript	ENST00000544898.6	protein_coding		2789		chr16	TogoVar
TKTL1_chrX_154290795_154335350	154328545	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	17	0.0588	19	c.161 others(36): Show c.1618+616_1618+634dupAAAAAAAAAAAAAAAAAAA	TKTL1	ENSG00000007350.18	transcript	ENST00000369915.8	protein_coding	12/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
TLE1_chr9_81578683_81694547	81660978	C C	CACACACA others(12): Show CACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	257	0.0039	19	c.235 others(36): Show c.235-6943_235-6942insTGTGTGTGTGTGTGTGTGT	TLE1	ENSG00000196781.16	transcript	ENST00000376499.8	protein_coding	4/19			chr9	TogoVar
TLE1_chr9_81578683_81694547	81675698	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp2 HG02647.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0239 a0001c0001t0004g0007 a0001c0001t0002g0239 a0001c0001t0004g0007	2	219	0.0091	19	c.234 others(36): Show c.234+9977_234+9978insAAAAAAAAAAAAAAAAAAA	TLE1	ENSG00000196781.16	transcript	ENST00000376499.8	protein_coding	4/19			chr9	TogoVar
TLE1_chr9_81578683_81694547	81675707	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0003 a0001c0001t0009g0003	1	351	0.0028	19	c.234 others(36): Show c.234+9968_234+9969insCAAAAAAAAAAAAAAAAAA	TLE1	ENSG00000196781.16	transcript	ENST00000376499.8	protein_coding	4/19			chr9	TogoVar
TLE2_chr19_2992644_3034280	3006773	G G	GTGTTTTT others(12): Show GTGTTTTTTATTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01071.hp1 HG00099.hp2 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0154 a0001c0003t0001g0341 a0001c0003t0001g0342 a0001c0003t0001g0154 a0001c0003t0001g0341 a0001c0003t0001g0342	3	401	0.0075	19	c.125 others(36): Show c.1251-123_1251-105dupAAACAAAAAATAAAAAACA	TLE2	ENSG00000065717.16	transcript	ENST00000262953.11	protein_coding	14/19			chr19	TogoVar
TLE5_chr19_3047910_3067495	3051731	T T	TATATATA others(12): Show TATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	404	0.0025	19	c.20 others(30): Show c.2087_*2088insTATATATATATATATATAT	TLE5	ENSG00000104964.15	transcript	ENST00000327141.9	protein_coding		1178		chr19	TogoVar
TLK1_chr2_170985823_171165893	170986505	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG02717.hp2 HG03098.hp1 others(2): Show HG00609.hp1 HG02717.hp2 HG03098.hp1 NA18946.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0091 a0001c0001t0001g0177 a0001c0001t0001g0202 others(2): Show a0001c0001t0001g0091 a0001c0001t0001g0177 a0001c0001t0001g0202 a0001c0001t0022g0246 a0001c0001t0022g0247	5	228	0.0219	19	c.72 others(30): Show c.7274_*7275insATATATATATATATATATA	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding		4317		chr2	TogoVar
TLK1_chr2_170985823_171165893	170986507	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 NA18982.hp2 NA18984.hp2 others(2): Show HG01981.hp2 NA18982.hp2 NA18984.hp2 NA19001.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0003t0003 a0001c0001t0001 a0001c0001t0007 a0001c0003t0003	a0001c0001t0001g0144 a0001c0001t0001g0155 a0001c0001t0001g0161 others(2): Show a0001c0001t0001g0144 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0007g0152 a0001c0003t0003g0210	5	175	0.0286	19	c.72 others(30): Show c.7272_*7273insATATATATATATATATATA	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding		4315		chr2	TogoVar
TLK1_chr2_170985823_171165893	170986509	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02735.hp2 NA18940.hp2 others(1): Show HG00438.hp1 HG02735.hp2 NA18940.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0003t0013 a0001c0001t0001 a0001c0001t0007 a0001c0003t0013	a0001c0001t0001g0130 a0001c0001t0001g0150 a0001c0001t0007g0141 others(1): Show a0001c0001t0001g0130 a0001c0001t0001g0150 a0001c0001t0007g0141 a0001c0003t0013g0243	4	108	0.0370	19	c.72 others(30): Show c.7270_*7271insATATATATATATATATATA	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding		4313		chr2	TogoVar
TLK1_chr2_170985823_171165893	170986511	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0237 a0001c0003t0013g0237	1	61	0.0164	19	c.72 others(30): Show c.7268_*7269insATATATATATATATATATA	TLK1	ENSG00000198586.14	transcript	ENST00000431350.7	protein_coding		4311		chr2	TogoVar
TLK2_chr17_62473825_62620481	62505407	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18948.hp2 NA18966.hp2 others(1): Show NA18940.hp2 NA18948.hp2 NA18966.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0223 a0001c0001t0001g0227 others(1): Show a0001c0001t0001g0188 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0260	4	5	0.8000	19	c.82- others(36): Show c.82-15358_82-15340dupTTTTTTTTTTTTTTTTTTT	TLK2	ENSG00000146872.19	transcript	ENST00000346027.10	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
TLK2_chr17_62473825_62620481	62540400	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01358.hp2 NA19074.hp1 HG00639.hp2 HG01358.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0002 a0001c0002t0007 a0001c0001t0012 a0001c0002t0002 a0001c0002t0007	a0001c0001t0012g0151 a0001c0002t0002g0006 a0001c0002t0007g0081 a0001c0001t0012g0151 a0001c0002t0002g0006 a0001c0002t0007g0081	3	22	0.1364	19	c.531 others(36): Show c.531+4068_531+4086dupTTTTTTTTTTTTTTTTTTT	TLK2	ENSG00000146872.19	transcript	ENST00000346027.10	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
TLK2_chr17_62473825_62620481	62546344	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01099.hp2 HG01192.hp2 others(14): Show HG00323.hp1 HG01099.hp2 HG01192.hp2 HG01496.hp2 HG01934.hp2 HG01978.hp1 HG02004.hp2 HG02273.hp1 HG02300.hp1 HG03017.hp2 HG03579.hp1 NA18941.hp2 NA18983.hp2 NA18990.hp1 NA19005.hp2 NA19074.hp1 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 others(3): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0013 a0001c0002t0015 a0001c0002t0019	a0001c0002t0002g0006 a0001c0002t0002g0022 a0001c0002t0002g0024 others(14): Show a0001c0002t0002g0006 a0001c0002t0002g0022 a0001c0002t0002g0024 a0001c0002t0002g0033 a0001c0002t0002g0035 a0001c0002t0002g0082 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0127 a0001c0002t0005g0013 a0001c0002t0005g0086 a0001c0002t0005g0155 a0001c0002t0007g0114 a0001c0002t0013g0095 a0001c0002t0013g0103 a0001c0002t0015g0037 a0001c0002t0019g0015	17	30	0.5667	19	c.532 others(36): Show c.532-5942_532-5941insTTTTTTTTTTTTTTTTTTT	TLK2	ENSG00000146872.19	transcript	ENST00000346027.10	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
TLK2_chr17_62473825_62620481	62549419	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02074.hp2 HG02280.hp2 others(3): Show HG01433.hp2 HG02074.hp2 HG02280.hp2 HG02698.hp2 NA18948.hp1 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 others(1): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007	a0001c0002t0002g0088 a0001c0002t0002g0094 a0001c0002t0003g0066 others(3): Show a0001c0002t0002g0088 a0001c0002t0002g0094 a0001c0002t0003g0066 a0001c0002t0003g0073 a0001c0002t0005g0137 a0001c0002t0007g0036	6	154	0.0390	19	c.532 others(36): Show c.532-2866_532-2865insGTAAAAAAAAAAAAAAAAA	TLK2	ENSG00000146872.19	transcript	ENST00000346027.10	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
TLK2_chr17_62473825_62620481	62549420	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAGT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0079 a0001c0002t0003g0079	1	278	0.0036	19	c.532 others(36): Show c.532-2865_532-2864insGTAAAAAAAAAAAAAAAAA	TLK2	ENSG00000146872.19	transcript	ENST00000346027.10	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
TLL1_chr4_165868237_166109457	165923421	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18941.hp1 NA18945.hp2 others(3): Show HG03195.hp1 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18981.hp2 NA19000.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0002c0002t0010 a0002c0002t0013 a0004c0006t0032	a0001c0001t0001g0182 a0001c0001t0004g0234 a0001c0001t0009g0215 others(3): Show a0001c0001t0001g0182 a0001c0001t0004g0234 a0001c0001t0009g0215 a0002c0002t0010g0224 a0002c0002t0013g0223 a0004c0006t0032g0028	6	46	0.1304	19	c.169 others(38): Show c.169+49355_169+49373dupTTTTTTTTTTTTTTTTTTT	TLL1	ENSG00000038295.8	transcript	ENST00000061240.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TLL2_chr10_96359608_96518926	96419006	C C	CTCCTGAT others(12): Show CTCCTGATGATGGGGGGGCG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	254	0.0039	19	c.923 others(36): Show c.923+1949_923+1950insCGCCCCCCCATCATCAGGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96459703	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA19063.hp1 NA18612.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0177 a0001c0001t0002g0036 a0001c0001t0002g0177	2	144	0.0139	19	c.287 others(38): Show c.287-13536_287-13535insATATATATATATATATATA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	2/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96459705	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0115 a0001c0005t0002g0115	1	130	0.0077	19	c.287 others(38): Show c.287-13538_287-13537insATATATATATATATATTTT	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	2/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96459705	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	130	0.0077	19	c.287 others(38): Show c.287-13538_287-13537insATATATATATATATATATA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	2/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96476240	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0249 a0001c0001t0010g0249	1	60	0.0167	19	c.286 others(36): Show c.286+4108_286+4109insAAAAAAAAATATATATATA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	2/20			chr10	TogoVar
TLN2_chr15_62385550_62849631	62414161	A A	AACAATAT others(12): Show AACAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0056 a0001c0003t0001g0056	1	126	0.0079	19	c.-23 others(40): Show c.-238+23477_-238+23478insCAATATATATATATATATA	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLN2_chr15_62385550_62849631	62664875	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0143 a0001c0002t0014g0143	1	133	0.0075	19	c.788 others(36): Show c.788+6980_788+6981insAAAAAAAAAAAAAAAGAAA	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	9/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TLNRD1_chr15_80995923_81010788	81000771	A A	AGCGTCCG others(12): Show AGCGTCCGCGTTGGGCGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	356	0.0028	19	c.-15 others(30): Show c.-1501_-1500insGCGTCCGCGTTGGGCGGCG	TLNRD1	ENSG00000140406.4	transcript	ENST00000267984.4	protein_coding		151		chr15	TogoVar
TLR7_chrX_12862072_12895361	12892000	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	41	0.0244	19	c.33 others(30): Show c.3342_*3343insAAAAAAAAAAAAAAAAAAA	TLR7	ENSG00000196664.5	transcript	ENST00000380659.4	protein_coding		1640		chrX	TogoVar
TLX3_chr5_171304248_171317139	171313352	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0002 a0002c0005t0002g0002	1	23	0.0435	19	c.17 others(30): Show c.1753_*1754insCTCTCTCTCTCTCTCTCTC	TLX3	ENSG00000164438.6	transcript	ENST00000296921.6	protein_coding		1214		chr5	TogoVar
TM2D1_chr1_61676046_61730141	61691932	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	219	0.0046	19	c.513 others(36): Show c.513+2764_513+2765insATATATATATTTTTTTTTT	TM2D1	ENSG00000162604.13	transcript	ENST00000606498.5	protein_coding	5/6			chr1	TogoVar
TM2D1_chr1_61676046_61730141	61691932	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19082.hp1 NA19085.hp1 NA18957.hp2 NA19082.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0063 a0001c0001t0001g0094 a0001c0001t0001g0095	3	221	0.0136	19	c.513 others(36): Show c.513+2764_513+2765insATATATATATATTTTTTTT	TM2D1	ENSG00000162604.13	transcript	ENST00000606498.5	protein_coding	5/6			chr1	TogoVar
TM2D1_chr1_61676046_61730141	61691932	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01496.hp1 HG01516.hp1 others(1): Show HG00738.hp1 HG01496.hp1 HG01516.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0121 others(1): Show a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0149	4	222	0.0180	19	c.513 others(36): Show c.513+2764_513+2765insATATATATATATATTTTTT	TM2D1	ENSG00000162604.13	transcript	ENST00000606498.5	protein_coding	5/6			chr1	TogoVar
TM2D1_chr1_61676046_61730141	61691932	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01069.hp1 HG01071.hp2 others(2): Show HG00673.hp2 HG01069.hp1 HG01071.hp2 NA18971.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0088 a0001c0001t0001g0111 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0088 a0001c0001t0001g0111 a0001c0001t0001g0129	5	223	0.0224	19	c.513 others(36): Show c.513+2764_513+2765insATATATATATATATATTTT	TM2D1	ENSG00000162604.13	transcript	ENST00000606498.5	protein_coding	5/6			chr1	TogoVar
TM2D1_chr1_61676046_61730141	61691932	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18945.hp2 NA19001.hp1 NA18612.hp1 NA18945.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0112 a0001c0001t0001g0270 a0001c0001t0001g0080 a0001c0001t0001g0112 a0001c0001t0001g0270	3	221	0.0136	19	c.513 others(36): Show c.513+2764_513+2765insATATATATATATATATATT	TM2D1	ENSG00000162604.13	transcript	ENST00000606498.5	protein_coding	5/6			chr1	TogoVar

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